Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2017 Apr 13;3(3):169-171.
doi: 10.1016/j.jdcr.2017.01.025. eCollection 2017 May.

The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria

Megumi Mizawa  1 , Teruhiko Makino  1 , Fumina Furukawa  1 , Ryotaro Torai  1 , Hajime Nakano  2 , Daisuke Sawamura  2 , Tadamichi Shimizu  1
Affiliations
Case Reports

The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria

Megumi Mizawa et al. JAAD Case Rep. .
No abstract available

Keywords: EPP, erythropoietic protoporphyria; FECH, ferrochelatase; IVS3-48C; PP, protoporphyrin; erythropoietic protoporphyria; ferrochelatase; iEPP, incomplete erythropoietic protoporphyria; incomplete erythropoietic protoporphyria; photosensitivity; silent erythropoietic protoporphyria.

PubMed Disclaimer

Figures

Fig 1
Fig 1
Fluorocytes and the pedigree of the patient. A, Fluorocytes were observed in the patient. B, The pedigree of the family with EPP. The solid symbols refer to symptomatic individuals. T and C represent wild-type IVS3-48T and IVS3-48C, respectively. M, c.286C>T; WT, wild-type.
Fig 2
Fig 2
The clinical course of EPP development.
Fig 3
Fig 3
The age at the onset of symptoms of 72 EPP patients reported in Japan.
See this image and copyright information in PMC

References

    1. Gouya L., Puy H., Robreau A.M. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet. 2002;30:27–28. - PubMed
    1. Gouya L., Puy H., Lamoril J. Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. Blood. 1999;93:2105–2110. - PubMed
    1. Gouya L., Martin-Schmitt C., Robreau A.M. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet. 2006;78:2–14. - PMC - PubMed
    1. Nakano H., Nakano A., Toyomaki Y. Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population. J Invest Dermatol. 2006;126:2717–2719. - PubMed
    1. Furuichi M., Makino T., Matsunaga K. The cases of erythropoietic protoporphyria diagnosed by genetic analysis of the ferrochelatase gene. Rinsho Derma. 2011;53:1043–1046. (in Japanese)

Publication types

LinkOut - more resources